Innovativ terapi for PKU pasienter - utvikling frem til klinikk

Offentlig prosjektsammendrag

Phenylketonuria (PKU) is an inborn genetic disease, affecting 1:10 000 children. Genetic diseases are caused by gene mutations that lead to destabilization, misfolding and loss of function of key proteins. In PKU, mutations affecting the enzyme phenylalanine hydroxylase (PAH) make the patients unable to process the amino acid phenylalanine - which is commonly found in food, such as meat, fish and dairy. There is no cure for the disease, and it is usually treated with a strict, lifelong diet. All PKU patients will need to follow a strict medical diet, avoiding food containing phenylalanine throughout their entire life and follow medical surveillance. The treatments available today are very burdensome for patients, often effective only for a limited proportion of patient and require maintenance of a medical diet. If the disease stays untreated, it might lead to severe physical and psychological disability, including seizures, behavioural problems and mental disorders. A research team from the University of Bergen has discovered small molecules that could be used to treat the PKU disease. These molecules, called pharmacological chaperones, are able to prevent and correct loss of function of PAH. Throughout the years, the research team has gained substantial knowledge and understanding on how mutations from PKU patients are affecting our molecular target PAH. The project is now developing a new pharmacological chaperone based therapy for PKU patients. In the next years, Pluvia hopes to develop a molecule that is advanced enough to be taken to the clinic. The potential of novel pharmacological chaperones-based therapies for the correction of the genetic disorders has also been proven for other diseases, such as cystic fibrosis, a life threatening disease affecting lung function, and Fabry disease, a rare genetic disorder.